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TBHS1
Chr 22ADsperm antigen with calponin homology and coiled-coil domains 1 like
Also known as: CYTSA, GBBB2, OBLFC1, TBHS, TBHS1
The encoded protein contains coiled-coil domains and is involved in actin-cytoskeletal reorganization during facial morphogenesis. Mutations cause Teebi hypertelorism syndrome 1, which is inherited in an autosomal dominant pattern. This syndrome affects craniofacial development and is associated with hypertelorism and facial clefting.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/TBHS1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TBHS1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools